Search Ontology:
Human Disease

dehydrated hereditary stomatocytosis 1

Term ID
DOID:0111576
Synonyms
  • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
  • pseudohyperkalemia edinburgh
  • pseudohyperkalemia familial 1, due to red cell leak
  • PSHK1
Definition
A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. https://www.ncbi.nlm.nih.gov/pubmed/22529292
References
Ontology
Human Disease   ( DOID:0111576 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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